Canonical Allele Identifier: CA740503103
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1416234184
gnomAD v4: 1-94001745-A-T
MyVariant Identifiers: chr1:g.94467301A>T (hg19) chr1:g.94001745A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001745A>T , CM000663.2:g.94001745A>T GRCh38
NC_000001.10:g.94467301A>T , CM000663.1:g.94467301A>T GRCh37
NC_000001.9:g.94239889A>T NCBI36
NG_009073.1:g.124405T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6282+113T>A MANE Select ENSP00000359245.3:n.6282+113T>A
ENST00000370225.3:c.6282+113T>A ENSP00000359245.3:n.6282+113T>A
ENST00000465352.1:n.811T>A
ENST00000536513.5:c.2658+113T>A ENSP00000439707.2:n.2658+113T>A
NM_000350.2:c.6282+113T>A NP_000341.2:n.6282+113T>A
NM_000350.3:c.6282+113T>A MANE Select NP_000341.2:n.6282+113T>A
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